Acrodysostosis 1 with or without hormone resistance
Acrodysostosis 1 with or without hormone resistance
Definition
An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.
Also known as Acrodysostosis 1, Acrodysostosis 1 with or without hormone resistance, Acrodysostosis 1, with or without hormone resistance, ADOHR — per MONDO